Tsoli Marina, Panagaki Maria, Tasouli Elisavet, Kolomodi Dionysia, Kaltsas Gregory
Neuroendocrine Tumour Unit, ENETS Centre of Excellence, 1st Department of Propaedeutic and Internal Medicine, Laiko Hospital, National and Kapodistrian University of Athens, Agiou Thoma 17, Athens, 11527, Greece.
Curr Oncol Rep. 2025 Jan;27(1):59-67. doi: 10.1007/s11912-024-01631-5. Epub 2025 Jan 5.
The purpose of this review is to outline the current knowledge on epidemiology, diagnosis and management of neuroendocrine neoplasms (NENs) that develop in the context of Von Hippel-Lindau (VHL) syndrome.
Pancreatic NENs develop in 8-17% of VHL patients (vPNENs) and are mostly multi-focal, cystic and non-functioning. Surgical resection is recommended for vPNENS > 3 cm that exhibit higher metastatic potential or in tumors with short doubling time while in the 20% of cases with metastatic disease the HIF-2 A inhibitor belzutifan is considered a promising option. Pheochromocytomas arising in VHL type 2 are often bilateral and have a noradrenergic phenotype while they are associated with increased risk of recurrence. High-specific activity [I]-MIBG and sunitinib are the treatment options with the highest level of evidence whereas studies on belzutifan are evolving. Life-long surveillance and management in the context of a multidisciplinary team are suggested to achieve the best clinical outcome.
本综述旨在概述关于在冯·希佩尔-林道（VHL）综合征背景下发生的神经内分泌肿瘤（NENs）的流行病学、诊断和管理的当前知识。
8%至17%的VHL患者会发生胰腺NENs（vPNENs），且大多为多灶性、囊性且无功能。对于直径大于3 cm、具有较高转移潜能或倍增时间短的vPNENs，建议手术切除；而在20%有转移性疾病的病例中，HIF-2 A抑制剂贝佐蒂凡被认为是一个有前景的选择。2型VHL患者中出现的嗜铬细胞瘤通常为双侧性，具有去甲肾上腺素能表型，且复发风险增加。高比活度[I]-间碘苄胍（MIBG）和舒尼替尼是证据水平最高的治疗选择，而关于贝佐蒂凡的研究仍在不断发展。建议在多学科团队的背景下进行终身监测和管理，以实现最佳临床结果。
